| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATTATA others(236): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0015 | a0001c0001t0003g0182a0001c0001t0003g0183a0001c0001t0009g0184others(1): Show | 4 | 340 | 0.0118 | 243 | c.*17 others(262): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(236): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0012 | 1 | 168 | 0.0060 | 243 | c.548 others(262): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPAAR_chr9_35904490_35916686 | 35913714 | G | GTGTGTGT others(236): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 243 | c.*30 others(254): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2029 | chr9 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35913714 | G | GTGTGTGT others(236): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 420 | 0.0024 | 243 | c.*30 others(254): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2029 | chr9 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46161025 | G | GTGGAGGG others(236): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0009 | 1 | 251 | 0.0040 | 243 | c.*35 others(252): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 134 | chr21 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(236): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 418 | 0.0024 | 243 | c.*54 others(254): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(236): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 260 | 0.0039 | 243 | c.138 others(262): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
| SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATACTTA others(236): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0003a0002c0004t0005 | a0001c0001t0003g0133a0002c0004t0003g0140a0002c0004t0005g0013 | 3 | 144 | 0.0208 | 243 | c.190 others(262): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
| SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(236): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 144 | 0.0069 | 243 | c.190 others(262): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
| SPTSSA_chr14_34427788_34467240 | 34443508 | T | TGTTGTGT others(236): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0016 | 1 | 344 | 0.0029 | 243 | c.113 others(260): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| SPTSSA_chr14_34427788_34467240 | 34443510 | T | TTGTGTGT others(236): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 344 | 0.0029 | 243 | c.113 others(260): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| SV2B_chr15_91095257_91307565 | 91270924 | A | AGGACGGT others(236): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0070 | 1 | 214 | 0.0047 | 243 | c.137 others(262): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SWAP70_chr11_9659077_9757993 | 9706165 | T | TTGGTGAT others(236): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18965.hp1 NA19062.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0254a0001c0003t0003g0255a0001c0003t0003g0256 | 3 | 294 | 0.0102 | 243 | c.241 others(260): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SYT17_chr16_19163240_19273332 | 19252350 | C | CATCTTGG others(236): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0319 | 1 | 324 | 0.0031 | 243 | c.122 others(264): Show |
SYT17 | ENSG00000103528.17 | transcript | ENST00000355377.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TAFA5_chr22_48484553_48756932 | 48735820 | C | CATCCCCC others(236): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG02055.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0030others(15): Show | 18 | 258 | 0.0698 | 243 | c.391 others(262): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBC1D2B_chr15_77989985_78082711 | 77992793 | C | CCCCACTC others(236): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0006 | 1 | 280 | 0.0036 | 243 | c.*53 others(254): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2191 | chr15 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628937 | C | CAGGGGGT others(236): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0142 | 1 | 352 | 0.0028 | 243 | c.299 others(260): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TEX2_chr17_64142227_64268260 | 64219505 | C | CATAAAAT others(236): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 224 | 0.0045 | 243 | c.-25 others(260): Show |
TEX2 | ENSG00000136478.9 | transcript | ENST00000584379.6 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
| TEX2_chr17_64142227_64268260 | 64219505 | C | CATAAAAT others(236): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 224 | 0.0045 | 243 | c.-25 others(260): Show |
TEX2 | ENSG00000136478.9 | transcript | ENST00000584379.6 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
| TEX2_chr17_64142227_64268260 | 64219505 | C | CATAAAAT others(236): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 224 | 0.0045 | 243 | c.-25 others(260): Show |
TEX2 | ENSG00000136478.9 | transcript | ENST00000584379.6 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
| THBS3_chr1_155190588_155212897 | 155191117 | C | CGGGGCCG others(236): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 243 | c.*47 others(254): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4470 | chr1 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376875 | T | TGTGCCCC others(236): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 370 | 0.0027 | 243 | c.-90 others(252): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 850 | chr19 | TogoVar | ||||||
| TMCO3_chr13_113486021_113555229 | 113543413 | C | CCCCCACC others(236): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0057 | 1 | 368 | 0.0027 | 243 | c.169 others(262): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMEM178B_chr7_141069064_141485380 | 141337038 | C | CCATCATC others(236): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0001 | 1 | 80 | 0.0125 | 243 | c.497 others(264): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| TNS1_chr2_217794791_218007995 | 217805513 | A | ACACCACA others(236): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01074.hp2 others(32): Show |
a0001a0003a0009others(8): Show | a0001c0006a0001c0010a0001c0013others(21): Show | a0001c0006t0005a0001c0010t0011a0001c0010t0027others(30): Show | a0001c0006t0005g0143a0001c0010t0011g0018a0001c0010t0027g0154others(32): Show | 35 | 244 | 0.1434 | 243 | c.537 others(260): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
| TNS1_chr2_217794791_218007995 | 217805513 | A | ACACCACA others(236): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01884.hp1 others(6): Show |
a0003a0008a0009others(2): Show | a0003c0024a0003c0033a0003c0115others(4): Show | a0003c0024t0006a0003c0033t0040a0003c0115t0073others(4): Show | a0003c0024t0006g0096a0003c0033t0040g0193a0003c0115t0073g0012others(5): Show | 9 | 244 | 0.0369 | 243 | c.537 others(260): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
| TOMM40_chr19_44886254_44908689 | 44887187 | T | TAAAAATA others(236): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 412 | 0.0024 | 243 | c.-42 others(254): Show |
TOMM40 | ENSG00000130204.13 | transcript | ENST00000426677.7 | protein_coding | 4066 | chr19 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930619 | C | CTGGGGTT others(236): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 466 | 0.0022 | 243 | c.*49 others(254): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4750 | chr11 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930754 | G | GCTGGGGT others(236): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 466 | 0.0022 | 243 | c.*48 others(254): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4615 | chr11 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930820 | G | GTTATGGA others(236): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 466 | 0.0022 | 243 | c.*47 others(254): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4549 | chr11 | TogoVar | ||||||
| TRIM46_chr1_155168849_155189970 | 155189518 | G | GGCGGTGG others(236): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 348 | 0.0029 | 243 | c.*53 others(254): Show |
TRIM46 | ENSG00000163462.19 | transcript | ENST00000334634.9 | protein_coding | 4549 | chr1 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(236): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0011 | a0001c0011t0035 | a0001c0011t0035g0174 | 1 | 174 | 0.0058 | 243 | c.41- others(260): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(236): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 338 | 0.0030 | 243 | c.*35 others(262): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A10_chr2_233631448_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 302 | 0.0033 | 243 | c.856 others(262): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A3_chr2_233724042_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0137 | 1 | 350 | 0.0029 | 243 | c.-39 others(254): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 3822 | chr2 | TogoVar | ||||||
| UGT1A4_chr2_233713736_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0144 | 1 | 332 | 0.0030 | 243 | c.867 others(260): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A5_chr2_233707907_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 330 | 0.0030 | 243 | c.867 others(262): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A6_chr2_233687890_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0275 | 1 | 332 | 0.0030 | 243 | c.861 others(262): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A7_chr2_233676901_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 320 | 0.0031 | 243 | c.856 others(262): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A8_chr2_233612633_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 290 | 0.0035 | 243 | c.856 others(262): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UGT1A9_chr2_233666898_233778300 | 233725219 | G | GGGAGAGG others(236): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 318 | 0.0031 | 243 | c.856 others(262): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ULK1_chr12_131889622_131928150 | 131917198 | T | TGGAGGCT others(236): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 344 | 0.0029 | 243 | c.218 others(260): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UMAD1_chr7_7635752_7884223 | 7678637 | G | GATAAATA others(236): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0068 | 1 | 250 | 0.0040 | 243 | c.82+ others(258): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UMAD1_chr7_7635752_7884223 | 7678637 | G | GATAAATA others(236): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0187 | 2 | 250 | 0.0080 | 243 | c.82+ others(258): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UNC80_chr2_209766832_210004296 | 209903533 | T | TTATATAT others(236): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01975.hp2 HG04228.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0114a0001c0001t0006g0051a0001c0001t0007g0029others(1): Show | 4 | 188 | 0.0213 | 243 | c.458 others(262): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(236): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 452 | 0.0022 | 243 | c.802 others(260): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(236): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 452 | 0.0022 | 243 | c.802 others(260): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(236): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 452 | 0.0022 | 243 | c.802 others(260): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(236): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0159 | 2 | 452 | 0.0044 | 243 | c.802 others(260): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| VCX_chrX_7838171_7849143 | 7844201 | T | TGGTGTGT others(236): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0034 | a0034c0033 | a0034c0033t0004 | a0034c0033t0004g0003 | 2 | 341 | 0.0059 | 243 | c.*18 others(252): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 59 | chrX | TogoVar |